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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-231276775-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231276775&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 231276775,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000611582.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "NM_001352754.2",
"protein_id": "NP_001339683.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 818,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 7879,
"mane_select": "ENST00000611582.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "ENST00000611582.5",
"protein_id": "ENSP00000484804.1",
"transcript_support_level": 5,
"aa_start": 492,
"aa_end": null,
"aa_length": 818,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 7879,
"mane_select": "NM_001352754.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "ENST00000349938.8",
"protein_id": "ENSP00000258417.5",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 665,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "NM_001271466.4",
"protein_id": "NP_001258395.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 818,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 8122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "ENST00000683275.1",
"protein_id": "ENSP00000506823.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 710,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1495G>A",
"hgvs_p": "p.Gly499Arg",
"transcript": "ENST00000683112.1",
"protein_id": "ENSP00000507357.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 672,
"cds_start": 1495,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "NM_001291656.2",
"protein_id": "NP_001278585.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 665,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "NM_001352755.2",
"protein_id": "NP_001339684.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 665,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "NM_001352756.2",
"protein_id": "NP_001339685.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 665,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "NM_025139.6",
"protein_id": "NP_079415.4",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 665,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "ENST00000683575.1",
"protein_id": "ENSP00000507743.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 665,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "ENST00000684432.1",
"protein_id": "ENSP00000508405.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 665,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "ENST00000684718.1",
"protein_id": "ENSP00000507543.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 665,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Arg",
"transcript": "ENST00000682030.1",
"protein_id": "ENSP00000508117.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 664,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Arg",
"transcript": "ENST00000682100.1",
"protein_id": "ENSP00000507066.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 664,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Arg",
"transcript": "ENST00000682367.1",
"protein_id": "ENSP00000507235.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 664,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Arg",
"transcript": "ENST00000683966.1",
"protein_id": "ENSP00000507325.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 664,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg",
"transcript": "ENST00000682334.1",
"protein_id": "ENSP00000507763.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 636,
"cds_start": 1474,
"cds_end": null,
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"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Gly459Arg",
"transcript": "NM_001352757.2",
"protein_id": "NP_001339686.2",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 632,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Gly459Arg",
"transcript": "NM_001352758.2",
"protein_id": "NP_001339687.2",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
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"cds_start": 1375,
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"cdna_start": 1482,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Gly459Arg",
"transcript": "ENST00000682002.1",
"protein_id": "ENSP00000507152.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 632,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Gly459Arg",
"transcript": "ENST00000683271.1",
"protein_id": "ENSP00000507513.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 632,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1480,
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.1474G>A",
"hgvs_p": null,
"transcript": "ENST00000684565.1",
"protein_id": "ENSP00000507599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.1583G>A",
"hgvs_p": null,
"transcript": "NR_148040.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.*518G>A",
"hgvs_p": null,
"transcript": "ENST00000682264.1",
"protein_id": "ENSP00000507212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.*2675G>A",
"hgvs_p": null,
"transcript": "ENST00000684368.1",
"protein_id": "ENSP00000508353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"dbsnp": "rs780265931",
"frequency_reference_population": 0.000001239271,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84156e-7,
"gnomad_genomes_af": 0.00000657047,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7265565991401672,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.999960720539093,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_ADA",
"revel_score": 0.372,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.99,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.428,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.95,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999960693441365,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000611582.5",
"gene_symbol": "ARMC9",
"hgnc_id": 20730,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1474G>A",
"hgvs_p": "p.Gly492Arg"
}
],
"clinvar_disease": "ARMC9-related Joubert syndrome,Dandy-Walker syndrome,Joubert syndrome,Joubert syndrome 30,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "ARMC9-related Joubert syndrome|Joubert syndrome 30|Joubert syndrome|Dandy-Walker syndrome|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}